ClinVar Miner

Variants studied for Inflammatory bowel disease 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
2 2 81 39 13 5 1 4 140

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
NOD2 1 0 64 35 9 0 0 3 106
CYLD, NOD2 0 0 17 4 3 0 1 1 25
HSPA1L 0 0 0 0 0 5 0 0 5
LOC126807125, SLC39A8 0 0 0 0 1 0 0 0 1
MYO5B 0 1 0 0 0 0 0 0 1
MYO5B, SNHG22 0 1 0 0 0 0 0 0 1
PRKCQ 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
Illumina Laboratory Services, Illumina 0 0 75 38 12 0 0 0 125
OMIM 0 0 0 0 1 0 0 4 5
Human Development and Health, University of Southampton 0 0 0 0 0 5 0 0 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 2 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 0 2
Gastroenterology Laboratory, Children's Hospital of Zhejiang University School of Medicine 0 2 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 0 0 0 1 0 1
Lab of Gastroenterology, College of Medicine, First Affiliate Hospital of Zhejiang University 1 0 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.